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Items: 17

1.

Adenosine

a kind of nucleic acid [from CHV]

MedGen UID:
127
Concept ID:
C0001443
Biologically Active Substance; Neuroreactive Substance or Biogenic Amine; Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
2.

Leukemia

Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. There are different types of leukemia, including. -Acute lymphocytic leukemia. -Acute myeloid leukemia. -Chronic lymphocytic leukemia. -Chronic myeloid leukemia. Leukemia can develop quickly or slowly. Chronic leukemia grows slowly. In acute leukemia, the cells are very abnormal and their number increases rapidly. Adults can get either type; children with leukemia most often have an acute type. Some leukemias can often be cured. Other types are hard to cure, but you can often control them. Treatments may include chemotherapy, radiation and stem cell transplantation. Even if symptoms disappear, you might need therapy to prevent a relapse. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
3.

Very low

The result for a quantitative observation is below a reference level at which action may be considered in the interest of the patient's health (as defined for the respective test procedure). [Note: This level is situated between 'L' and 'LL'.].  [from HL7]

MedGen UID:
617805
Concept ID:
C0442811
Finding
4.

Severe combined immunodeficiency due to ADA deficiency

Adenosine deaminase (ADA) deficiency is a systemic purine metabolic disorder that primarily affects lymphocyte development, viability, and function. The clinical phenotypic spectrum includes: Severe combined immunodeficiency disease (SCID), often diagnosed by age six months and usually by age 12 months; Less severe "delayed" onset combined immune deficiency (CID), usually diagnosed between age one and ten years; "Late/adult onset" CID, diagnosed in the second to fourth decades; Benign "partial ADA deficiency" (very low or absent ADA activity in erythrocytes but greater ADA activity in nucleated cells), which is compatible with normal immune function. Infants with typical early-onset ADA-deficient SCID have failure to thrive and opportunistic infections associated with marked depletion of T, B, and NK lymphocytes, and an absence of both humoral and cellular immune function. If immune function is not restored, children with ADA-deficient SCID rarely survive beyond age one to two years. Infections in delayed- and late-onset types (commonly, recurrent otitis, sinusitis, and upper respiratory) may initially be less severe than those in individuals with ADA-deficient SCID; however, by the time of diagnosis these individuals often have chronic pulmonary insufficiency and may have autoimmune phenomena (cytopenias, anti-thyroid antibodies), allergies, and elevated serum concentration of IgE. The longer the disorder goes unrecognized, the more immune function deteriorates and the more likely are chronic sequelae of recurrent infection. [from GeneReviews]

MedGen UID:
354935
Concept ID:
C1863236
Disease or Syndrome
5.

Thymus Epithelial Neoplasm

An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas. [from NCI]

MedGen UID:
220416
Concept ID:
C1266101
Neoplastic Process
7.

Peripheral

On or near an edge or constituting an outer boundary; the outer area. (NCI) [from NCI]

MedGen UID:
59959
Concept ID:
C0205100
Spatial Concept
8.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
9.

Disorder of purine and pyrimidine metabolism

Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero. [from MeSH]

MedGen UID:
48263
Concept ID:
C0034139
Disease or Syndrome
10.

Nutritional and Metabolic Diseases

A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. [from MeSH]

MedGen UID:
45164
Concept ID:
C0028715
Disease or Syndrome
11.

Metabolic disease

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. There are different groups of disorders. Some affect the breakdown of amino acids, carbohydrates, or lipids. Another group, mitochondrial diseases, affects the parts of the cells that produce the energy. You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example. .  [from MedlinePlus]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
12.

Inborn error of metabolism

Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. [from MeSH]

MedGen UID:
6323
Concept ID:
C0025521
Congenital Abnormality; Disease or Syndrome
13.

pegademase bovine

MedGen UID:
58374
Concept ID:
C0164674
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
14.

Adenosine adverse reaction

MedGen UID:
654190
Concept ID:
C0570413
Injury or Poisoning; Pathologic Function
15.

Intramuscular immunoglobulin adverse reaction

MedGen UID:
653934
Concept ID:
C0570144
Finding; Pathologic Function
16.

Human immunoglobulin adverse reaction

MedGen UID:
653933
Concept ID:
C0570143
Finding; Pathologic Function
17.

Immunoglobulin products adverse reaction

MedGen UID:
653932
Concept ID:
C0570142
Finding; Pathologic Function
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